Incidental Mutation 'IGL00846:Serpinb3b'
| ID |
13977 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Serpinb3b
|
| Ensembl Gene |
ENSMUSG00000073602 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 3B |
| Synonyms |
Scca2-rs |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
IGL00846
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
107081691-107088844 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 107083579 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 200
(N200I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132370
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086694]
[ENSMUST00000166100]
|
| AlphaFold |
Q9D1Q5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086694
AA Change: N200I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000083901
Gene: ENSMUSG00000073602
AA Change: N200I
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
387 |
4.75e-181 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166100
AA Change: N200I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132370
Gene: ENSMUSG00000073602
AA Change: N200I
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
387 |
4.75e-181 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atxn2l |
T |
C |
7: 126,098,350 (GRCm39) |
T181A |
probably damaging |
Het |
| Caskin1 |
T |
C |
17: 24,718,323 (GRCm39) |
|
probably null |
Het |
| Cass4 |
A |
C |
2: 172,271,643 (GRCm39) |
|
probably benign |
Het |
| Cdh26 |
A |
T |
2: 178,123,417 (GRCm39) |
Y672F |
possibly damaging |
Het |
| Cep290 |
T |
A |
10: 100,376,195 (GRCm39) |
|
probably benign |
Het |
| Cntnap2 |
T |
C |
6: 47,169,972 (GRCm39) |
L1146P |
probably benign |
Het |
| Cntnap5b |
T |
G |
1: 100,091,948 (GRCm39) |
C230G |
probably damaging |
Het |
| Ctnnd1 |
C |
T |
2: 84,452,354 (GRCm39) |
|
probably null |
Het |
| Cux1 |
A |
G |
5: 136,355,650 (GRCm39) |
I324T |
probably damaging |
Het |
| Dnajb4 |
T |
C |
3: 151,899,118 (GRCm39) |
N36S |
probably damaging |
Het |
| Fancc |
T |
A |
13: 63,488,270 (GRCm39) |
T237S |
possibly damaging |
Het |
| Fip1l1 |
A |
G |
5: 74,747,726 (GRCm39) |
|
probably benign |
Het |
| Hemgn |
G |
T |
4: 46,396,171 (GRCm39) |
T355K |
possibly damaging |
Het |
| Hivep1 |
T |
A |
13: 42,321,092 (GRCm39) |
L42* |
probably null |
Het |
| Hps3 |
A |
G |
3: 20,079,956 (GRCm39) |
W234R |
probably benign |
Het |
| Kit |
A |
T |
5: 75,801,471 (GRCm39) |
N586I |
probably damaging |
Het |
| Mettl14 |
T |
A |
3: 123,165,012 (GRCm39) |
K109N |
probably damaging |
Het |
| Mmab |
A |
T |
5: 114,571,378 (GRCm39) |
M166K |
probably benign |
Het |
| Naprt |
T |
A |
15: 75,763,637 (GRCm39) |
Y395F |
probably benign |
Het |
| Nostrin |
C |
T |
2: 69,015,899 (GRCm39) |
|
probably benign |
Het |
| Pgap1 |
G |
T |
1: 54,531,180 (GRCm39) |
|
probably benign |
Het |
| Plpp5 |
A |
T |
8: 26,210,585 (GRCm39) |
I59F |
probably damaging |
Het |
| Prrc2b |
T |
C |
2: 32,089,109 (GRCm39) |
|
probably benign |
Het |
| Scn4a |
A |
T |
11: 106,218,944 (GRCm39) |
V958D |
probably benign |
Het |
| Slc22a15 |
T |
A |
3: 101,768,136 (GRCm39) |
Q512L |
probably benign |
Het |
| Tmf1 |
A |
T |
6: 97,150,277 (GRCm39) |
Y477N |
possibly damaging |
Het |
| Trim10 |
T |
A |
17: 37,182,584 (GRCm39) |
L150H |
probably damaging |
Het |
| Ttc41 |
A |
G |
10: 86,572,797 (GRCm39) |
E723G |
possibly damaging |
Het |
| Usp25 |
A |
G |
16: 76,859,293 (GRCm39) |
S264G |
probably damaging |
Het |
| Vopp1 |
A |
G |
6: 57,731,465 (GRCm39) |
|
probably benign |
Het |
| Wapl |
G |
T |
14: 34,414,701 (GRCm39) |
|
probably benign |
Het |
| Wbp1 |
A |
G |
6: 83,097,022 (GRCm39) |
F93S |
probably damaging |
Het |
| Wt1 |
G |
T |
2: 104,997,302 (GRCm39) |
R413L |
probably damaging |
Het |
| Zfp345 |
C |
T |
2: 150,314,538 (GRCm39) |
G333D |
possibly damaging |
Het |
| Zmynd11 |
C |
A |
13: 9,770,808 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Serpinb3b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00504:Serpinb3b
|
APN |
1 |
107,085,411 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL00543:Serpinb3b
|
APN |
1 |
107,085,396 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00851:Serpinb3b
|
APN |
1 |
107,087,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01017:Serpinb3b
|
APN |
1 |
107,082,187 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL01083:Serpinb3b
|
APN |
1 |
107,085,473 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
IGL01300:Serpinb3b
|
APN |
1 |
107,083,573 (GRCm39) |
critical splice donor site |
probably benign |
|
|
IGL01306:Serpinb3b
|
APN |
1 |
107,082,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01604:Serpinb3b
|
APN |
1 |
107,082,454 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01936:Serpinb3b
|
APN |
1 |
107,082,368 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02125:Serpinb3b
|
APN |
1 |
107,082,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03185:Serpinb3b
|
APN |
1 |
107,084,662 (GRCm39) |
missense |
probably benign |
0.01 |
|
ANU23:Serpinb3b
|
UTSW |
1 |
107,082,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0329:Serpinb3b
|
UTSW |
1 |
107,087,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0330:Serpinb3b
|
UTSW |
1 |
107,087,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1465:Serpinb3b
|
UTSW |
1 |
107,083,573 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1465:Serpinb3b
|
UTSW |
1 |
107,083,573 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1635:Serpinb3b
|
UTSW |
1 |
107,082,403 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1713:Serpinb3b
|
UTSW |
1 |
107,083,164 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1898:Serpinb3b
|
UTSW |
1 |
107,082,317 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R2252:Serpinb3b
|
UTSW |
1 |
107,083,208 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R3430:Serpinb3b
|
UTSW |
1 |
107,082,425 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4382:Serpinb3b
|
UTSW |
1 |
107,083,273 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4741:Serpinb3b
|
UTSW |
1 |
107,082,200 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4855:Serpinb3b
|
UTSW |
1 |
107,082,270 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R4974:Serpinb3b
|
UTSW |
1 |
107,082,445 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4982:Serpinb3b
|
UTSW |
1 |
107,085,484 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5519:Serpinb3b
|
UTSW |
1 |
107,087,506 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R6846:Serpinb3b
|
UTSW |
1 |
107,082,403 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7815:Serpinb3b
|
UTSW |
1 |
107,084,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7860:Serpinb3b
|
UTSW |
1 |
107,085,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9720:Serpinb3b
|
UTSW |
1 |
107,083,669 (GRCm39) |
missense |
probably benign |
|
|
R9746:Serpinb3b
|
UTSW |
1 |
107,082,403 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9773:Serpinb3b
|
UTSW |
1 |
107,085,416 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
Z1088:Serpinb3b
|
UTSW |
1 |
107,085,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation